TAY-SACHS DISEASE |
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DESCRIPTION
Tay-Sachs disease is a rare, inherited disorder of the central nervous system in infants and young children. It causes progressive impairment and early death. Fewer than 100 children are born with the disease each year in the U.S. The central nervous system--including the brain, the coverings of the brain (meninges), and the spinal cord -- and peripheral nerves are involved.
Appropriate health care includes:
Physician's monitoring of general condition and medications.
Time in an extended-care facility for basic care if parents are unable to provide it for the child at home.
Psychotherapy or counseling for parents and siblings to learn to cope with the distress produced by this condition.
SIGNS & SYMPTOMS
The child seems normal at birth. Between 3 and 6 months, the following symptoms begin to appear:
Loss of alertness and retarded mental development.
Loss of muscle strength, such as difficulty sitting up or turning over.
Deafness.
Blindness.
Severe constipation caused by an impaired nerve supply to the colon.
Seizures.
CAUSES
An inherited disease resulting from a recessive gene that causes an enzyme deficiency. If both parents have the gene, they have a 25% chance of having a child with Tay-Sachs disease. If only one parent is a carrier, the children will not have the disease.
RISK FACTORS
Genetic factors. Most parents who carry the recessive gene are of Eastern European Jewish origin (Ashkenazi).
PREVENTING COMPLICATIONS OR RECURRENCE
Obtain genetic screening for children in families with Tay-Sachs.
Obtain genetic counseling if you or your spouse have a family history of Tay-Sachs or are of Ashkenazi background.
If you are expecting a child and have a family history of Tay-Sachs, consider amniocentesis (See Glossary) to detect if the fetus has the disease.
BASIC INFORMATION
MEDICAL TESTS
Your own observation of symptoms.
Medical history and physical exam by a doctor.
Laboratory blood tests to detect the hexosaminidase A enzyme deficiency.
POSSIBLE COMPLICATIONS
Pneumonia.
Pressure sores.
PROBABLE OUTCOME
Death usually occurs before age 5.
TREATMENT
HOME CARESeek out support groups for families of Tay-Sachs victims.
MEDICATION
Your doctor may prescribe:
Anti-convulsants to control the child's seizures.
Stool softeners and laxatives to relieve constipation.
Other medicines to control complicating disorders as they arise.
See Medications section for information regarding medicines your doctor may prescribe.
ACTIVITY
In the early stages, encourage your child to be as active as possible. Increasing mental, nervous and muscular deficiencies will eventually confine the child to bed much of the time.
DIET & FLUIDS
Provide adequate fluids and a normal, high-fiber diet to minimize the child's constipation. Feeding by tube usually becomes necessary as the disease progresses.
OK TO GO TO SCHOOL?Not likely.
CALL YOUR DOCTOR IF
You are concerned about your infant's mental and physical development.
You think you or any member of your family carries the abnormal gene. A genetic counselor can advise you on how to prevent having children with this disease.
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